Phenotypes associated with the disease Martinez-Frias syndrome (OMIM:601346):
- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: IEA. (OMIM:601346)
- Jejunal atresia (HP:0005235): A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum. Evidence: IEA. (OMIM:601346)
- Intestinal hypoplasia (HP:0005245): Developmental hypoplasia of the intestine. Evidence: IEA. (OMIM:601346)
- Pancreatic hypoplasia (HP:0002594): Hypoplasia of the pancreas. Evidence: IEA. (OMIM:601346)
- Hypoplasia of the gallbladder (HP:0005233): The presence of a hypoplastic gallbladder. Evidence: IEA. (OMIM:601346)
- Extrahepatic biliary duct atresia (HP:0005242): Atresia in the extrahepatic bile duct. Evidence: IEA. (OMIM:601346)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:601346)
- Annular pancreas (HP:0001734): A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. Evidence: IEA. (OMIM:601346)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. (OMIM:601346)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: IEA. (OMIM:601346)
- Duodenal atresia (HP:0002247): A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. Evidence: IEA. (OMIM:601346)
- Intestinal malrotation (HP:0002566): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: IEA. (OMIM:601346)